کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8711301 | 1586609 | 2017 | 15 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Les syndromes d'Ehlers-Danlos
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کلمات کلیدی
proteoglycansEhlers-Danlos - اهلرز دانلوسTissu conjonctif - بافت اتصالConnective tissue - بافت همبندMetabolic diseases - بیماری های متابولیکMaladies métaboliques - بیماری های متابولیکGenetic diseases - بیماری های ژنتیکیMaladies génétiques - بیماری های ژنتیکیJoint hypermobility - حرکت فوق العاده متحرکSkin fragility - شکنندگی پوستMatrice extracellulaire - ماتریکس خارج سلولی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
امراض پوستی
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چکیده انگلیسی
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders. In 1997, the Villefranche classification defined 6Â subtypes of EDS. However, many other new variants have been described over the last years. The “historical” EDS were characterized by abnormalities in fibrillar collagen protein synthesis. More recently, disorders of synthesis and organization of the extracellular matrix have been shown to be responsible for other types of EDS. Thus, many EDS are in fact metabolic diseases related to enzymatic defects. While there is no curative treatment for any type of EDS, early diagnosis is of utmost importance in order to optimize the symptomatic management of patients and to prevent avoidable complications. Patients must be treated and monitored by multidisciplinary teams in highly specialized reference centers. In this article, we present the current state of knowledge on these diseases that continue to be elucidated thanks to new molecular genetic techniques.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Annales de Dermatologie et de Vénéréologie - Volume 144, Issue 12, December 2017, Pages 744-758
Journal: Annales de Dermatologie et de Vénéréologie - Volume 144, Issue 12, December 2017, Pages 744-758
نویسندگان
D.-P. Germain,